F50L (p.Phe50Leu) variant of NCF1 (Neutrophil cytosol factor 1)
F50L (p.Phe50Leu) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
F50L (p.Phe50Leu) variant details
- p.Phe50Leu
- gnomAD 7-74777344-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.17
- MetaLR 0.13
- MetaSVM -0.92
- CADD 20.10
- PolyPhen-2 0.53
- SIFT 0.38
- Population evidence available
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.749
- Literature evidence available